Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Background Childhood‐onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood‐onset dystonia. Objective To define the frequency of KMT2B mutations in a cohort of dystonic patients aged

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Veröffentlicht in:	Movement disorders 2019-10, Vol.34 (10), p.1516-1527
Hauptverfasser:	Carecchio, Miryam, Invernizzi, Federica, Gonzàlez‐Latapi, Paulina, Panteghini, Celeste, Zorzi, Giovanna, Romito, Luigi, Leuzzi, Vincenzo, Galosi, Serena, Reale, Chiara, Zibordi, Federica, Joseph, Agnel P., Topf, Maya, Piano, Carla, Bentivoglio, Anna Rita, Girotti, Floriano, Morana, Paolo, Morana, Benedetto, Kurian, Manju A., Garavaglia, Barbara, Mencacci, Niccolò E., Lubbe, Steven J., Nardocci, Nardo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Child childhood Children Cohort analysis Cohort Studies DBS Deep Brain Stimulation - methods Dystonia Dystonic Disorders - genetics Female Genetic screening Growth rate Histone-Lysine N-Methyltransferase - genetics Humans Intellectual disabilities Intellectual Disability - genetics KMT2B Male Middle Aged Movement disorders Mutation Mutation - genetics Neurodevelopmental disorders Phenotype Phenotypes WES Young Adult
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Zusammenfassung:	Background Childhood‐onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood‐onset dystonia. Objective To define the frequency of KMT2B mutations in a cohort of dystonic patients aged
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.27771